Variants from Wendy Chung Laboratory, Columbia University Medical Center with conflicting interpretations

Minimum review status of the submission from Wendy Chung Laboratory, Columbia University Medical Center:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Wendy Chung Laboratory, Columbia University Medical Center:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-03-31

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
272	19	0	2	2	0	5	9

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Wendy Chung Laboratory, Columbia University Medical Center		pathogenic	likely pathogenic	uncertain significance	likely benign
	likely pathogenic	2	0	1	0
	uncertain significance	3	1	0	2

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
GeneDx	0	1	0	2	2	0	0	4
Invitae	0	0	0	0	0	0	3	3
Ambry Genetics	0	0	0	0	1	0	0	1
PreventionGenetics, part of Exact Sciences	0	0	0	0	0	0	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	0	0	0	1	1
New York Genome Center	0	0	0	0	0	0	1	1
3billion	0	0	0	1	0	0	0	1
Rare Disease Genomics Group, St George's University of London	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	rs142896669	0.00037
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	rs146583835
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)	rs1060502583
NM_001204.7(BMPR2):c.419-38del	rs10714063
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)	rs751046231
NM_001321120.2(TBX4):c.1115del (p.Pro372fs)	rs754897911
NM_001321120.2(TBX4):c.702+1G>A	rs1555883342
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)	rs1555883469
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)	rs1595472764